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ATM c.256A>G ;(p.T86A)
Variant ID: 11-108099975-A-G
NM_000051.3(
ATM
):c.256A>G;(p.T86A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: ATM: 256A>G; T86A
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Phosphorylation of the Archaeal Holliday Junction Resolvase Hjc Inhibits Its Catalytic Activity and Facilitates DNA Repair in Sulfolobus islandicus REY15A.
Frontiers In Microbiology
Huang, Qihong Q; Mayaka, Joseph Badys JB; Zhong, Qing Q; Zhang, Chao C; Hou, Guihua G; Ni, Jinfeng J; Shen, Yulong Y
Publication Date: 2019
Variant appearance in text: ATM: T86A
PubMed Link:
31214148
Variant Present in the following documents:
Main text
fmicb-10-01214.pdf
View BVdb publication page
Regulation of the DNA Damage Response by DNA-PKcs Inhibitory Phosphorylation of ATM.
Molecular Cell
Zhou, Yi Y; Lee, Ji-Hoon JH; Jiang, Wenxia W; Crowe, Jennie L JL; Zha, Shan S; Paull, Tanya T TT
Publication Date: 2017-01-05
Variant appearance in text: ATM: T86A
PubMed Link:
27939942
Variant Present in the following documents:
Main text
View BVdb publication page